Varaico: Literature-Extracted Genetic Variants

Gene:PER2
Variant:p.S662G
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PER2

NM_022817.3:p.S662G

Associated Papers

Circadian clock gene variants in two Japanese families with familial advanced sleep phase.

Ukai M et al.

Sleep, 2025

39786455 (PubMed )
Supplement: zsae309_suppl_supplementary_tables.xlsx › Suppl_Table_1

Isoform-specific C-terminal phosphorylation drives autoinhibition of Casein kinase 1.

Harold RL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Isoform-specific C-terminal phosphorylation drives autoinhibition of Casein Kinase 1.

Harold RL et al.

Biorxiv : the Preprint Server for Biology, 2024

Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.

Plavc L et al.

Chronobiology International, 2024

Adaptive changes in BMAL2 with increased locomotion associated with the evolution of unihemispheric slow-wave sleep in mammals.

Yin D et al.

Sleep, 2024

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › 0_position

The impact of Mendelian sleep and circadian genetic variants in a population setting.

Weedon MN et al.

Plos Genetics, 2022

Decoupling PER phosphorylation, stability and rhythmic expression from circadian clock function by abolishing PER-CK1 interaction.

An Y et al.

Nature Communications, 2022

Toward a Molecular Approach to Chronotype Assessment.

Biscontin A et al.

Journal of Biological Rhythms, 2022

PhosVarDeep: deep-learning based prediction of phospho-variants using sequence information.

Liu X et al.

Peerj, 2022

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.

Masunaga Y et al.

Clinical Epigenetics, 2021

Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.

Hoang N et al.

American Journal of Medical Genetics. Part A, 2021

The molecular genetics of human sleep.

Zhang L et al.

The European Journal of Neuroscience, 2020

The period circadian clock 2 gene responds to glucocorticoids and regulates osteogenic capacity.

Abe T et al.

Regenerative Therapy, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.

Kurien P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019

Evaluation of the Association Between Genetic Variants in Circadian Rhythm Genes and Posttraumatic Stress Symptoms Identifies a Potential Functional Allele in the Transcription Factor TEF.

Linnstaedt SD et al.

Frontiers in Psychiatry, 2018

30498461 (PubMed )
Supplement: Table_3.XLSX › Tier_Categories

PhosphoPICK-SNP: quantifying the effect of amino acid variants on protein phosphorylation.

Patrick R et al.

Bioinformatics (oxford, England), 2017

An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression.

Akiyama T et al.

Plos One, 2017

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

A PER2-derived mechanism-based bisubstrate analog for casein kinase 1ε.

Zeringo NA et al.

Chemical Biology & Drug Design, 2014

PER1 phosphorylation specifies feeding rhythm in mice.

Liu Z et al.

Cell Reports, 2014

Association of the clock genes polymorphisms with colorectal cancer susceptibility.

Karantanos T et al.

Journal of Surgical Oncology, 2013

Analysis of polymorphisms in the circadian-related genes and breast cancer risk in Norwegian nurses working night shifts.

Zienolddiny S et al.

Breast Cancer Research : Bcr, 2013

Diversity of human clock genotypes and consequences.

Zhang L et al.

Progress in Molecular Biology and Translational Science, 2013

The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis.

Gu X et al.

Cell Death and Differentiation, 2012

Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability.

Shanware NP et al.

The Journal of Biological Chemistry, 2011

NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.

Englund A et al.

Journal of Circadian Rhythms, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

Casein kinase-1-epsilon (CK1epsilon) and circadian photic responses in hamsters.

Agostino PV et al.

Chronobiology International, 2009

Genetic differences in human circadian clock genes among worldwide populations.

Ciarleglio CM et al.

Journal of Biological Rhythms, 2008

Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders.

Tafti M et al.

Current Opinion in Genetics & Development, 2007

[Functional polymorphisms in clock genes and circadian rhythm sleep disorders].

Ebisawa T

Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 2007

Circadian rhythms in the CNS and peripheral clock disorders: human sleep disorders and clock genes.

Ebisawa T

Journal of Pharmacological Sciences, 2007

A circadian sleep disorder reveals a complex clock.

Mignot E et al.

Cell, 2007

Modeling of a human circadian mutation yields insights into clock regulation by PER2.

Xu Y et al.

Cell, 2007

Novel insights from genetic and molecular characterization of the human clock.

Ptácek LJ et al.

Cold Spring Harbor Symposia on Quantitative Biology, 2007

The tau mutation in the Syrian hamster differentially reprograms the circadian clock in the SCN and peripheral tissues.

Dey J et al.

Journal of Biological Rhythms, 2005

A missense variation in human casein kinase I epsilon gene that induces functional alteration and shows an inverse association with circadian rhythm sleep disorders.

Takano A et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2004

Mutation screening of the human period 2 gene in bipolar disorder.

Shiino Y et al.

Neuroscience Letters, 2003

Casein kinase I: another cog in the circadian clockworks.

Eide EJ et al.

Chronobiology International, 2001

An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

Toh KL et al.

Science (new York, N.y.), 2001

Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption.

Kovanen L et al.

Alcohol and Alcoholism (oxford, Oxfordshire), 0

Solving the mystery of human sleep schedules one mutation at a time.

Hallows WC et al.

Critical Reviews in Biochemistry and Molecular Biology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."